Results 121 to 130 of about 224,928,877 (151)

Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation. [PDF]

Mol Med
Tsai CY, Lu YS, Chiang YT, Lo MY, Lin PH, Tsai SF, Hsu CJ, Chen PL, Hsu JS, Wu CC.   +9 more
europepmc   +1 more source

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema. [PDF]

J Clin Immunol
Batlle-Masó L, Neveling K, Gil-Serrano J, Kamping E, den Ouden A, Timmermans R, Bruch-Tàrrega A, Aguiló-Cucurull A, Perurena-Prieto J, Fernández-Álvarez P, Steehouwer M, Hoischen A, Guilarte M, Colobran R.   +13 more
europepmc   +1 more source

A novel homozygous variant in the <i>ATP7B</i> gene in a patient with Wilson's disease: a case report. [PDF]

Front Med (Lausanne)
Shavrak VE, Zhalsanova IZ, Fonova EA, Erburova DN, Kolesnikov NA, Fomenko SS, Petrova VV, Seitova GN, Stepanov VA, Skryabin NA.   +9 more
europepmc   +1 more source

The efficacy of antidepressant medication versus interpersonal psychotherapy for depression in middle-aged women: a systematic review and individual participant data meta-analysis. [PDF]

Arch Womens Ment Health
van Haaren SNE, Cohen ZD, Breunese J, Wienicke FJ, Markowitz JC, Weitz ES, Hollon SD, Browne DT, Rucci P, Corda C, Menchetti M, Weissman MM, Bagby RM, Quilty LC, Blom MBJ, Altamura M, Zobel I, Schramm E, Gois C, Twisk JWR, Cuijpers P, Driessen E.   +21 more
europepmc   +1 more source

NIPT-based prenatal screening of maternal Xq28 copy number variations in a cohort of 80,371 pregnancies. [PDF]

Arch Gynecol Obstet
Meng L, Xu Y, Liang Y, Zhou R, Zhao J, Huo H, Zhang Q, Gao J, Liu T, Dai M, Du P, Wang Y, Hu P, Xu Z.   +13 more
europepmc   +1 more source

Exhausted CD8⁺ T cell fate is programmed by dynamic CTCF-mediated enhancer activation and invariant CTCF-imposed barriers. [PDF]

Nat Immunol
Hu W, Zhu S, Chen Q, Badovinac VP, Peng W, Xue HH.   +5 more
europepmc   +1 more source

Recurring acquisition of carbapenemase genes and global emergence of <i>Pseudomonas aeruginosa</i> ST-1047, a lineage shaped by geopolitical conflicts. [PDF]

mBio
Luo TL, Jones BT, Dao H, Kondratiuk V, Kovalchuk V, Fomina N, Fuchs F, Byarugaba DK, Wabwire-Mangeni F, Kibuuka H, Smedberg JR, Ong AC, Kwak YI, Hendrickx APA, Bennett JW, Lebreton F, McGann PT.   +16 more
europepmc   +1 more source

Hitchhiking genes and boundaries of AmpC amplicons during amoxicillin resistance development in E. coli. [PDF]

BMC Microbiol
Nong L, Wang X, Koenders B, de Leeuw W, Jonker M, Brul S, Kuile BT.   +6 more
europepmc   +1 more source

Projected mycotoxin contamination in European wheat under future climate and socioeconomic scenarios. [PDF]

NPJ Sci Food
Wang X, Rodés-Bachs C, Van der Fels-Klerx HJ.   +2 more
europepmc   +1 more source

In vivo CRISPR knockout screen identifies Polr1a as a key driver and a potential therapeutic target for melanoma metastasis. [PDF]

Oncogene
Fajardo AF, Gowda CP, Johnson E, Petroni R, Tomar VS, Liu Z, Andres Blanco M, Janssen J, Elcheva IA, Lanza M, Fuchs SY, Spiegelman VS.   +11 more
europepmc   +1 more source